David Valle Selected Research

Precision Medicine

1/2019

Insights into genetics, human biology and disease gleaned from family based genomic studies.

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David Valle Research Topics

Disease

4	Gyrate Atrophy 01/2023 - 02/2002
3	Schizophrenia (Dementia Praecox) 11/2014 - 11/2008
2	Inborn Urea Cycle Disorders 05/2023 - 06/2022
2	Hyperammonemia 06/2022 - 01/2022
2	Retinal Degeneration 06/2022 - 02/2013
2	Strudwick syndrome 01/2018 - 01/2015
2	Developmental Bone Diseases (Bone Dysplasia) 01/2018 - 01/2015
1	Hypertension (High Blood Pressure) 12/2023
1	Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder) 12/2023
1	Autonomic Nervous System Diseases (Dysautonomia) 12/2023
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 05/2023
1	COVID-19 05/2023
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2023
1	Hypoxia (Hypoxemia) 12/2022
1	Brain Diseases (Brain Disorder) 06/2022
1	Myopia 06/2022
1	Respiratory Syncytial Virus Infections 01/2019
1	Liver Failure 01/2019
1	Rare Diseases (Rare Disease) 01/2019
1	Splenomegaly 01/2019
1	Neutropenia 01/2019
1	Transaldolase Deficiency 01/2019
1	Thrombocytopenia (Thrombopenia) 01/2019
1	Hereditary Corneal Dystrophies 01/2018
1	Kabuki syndrome 12/2017
1	Laminopathies 01/2017
1	Insulin Resistance 01/2017
1	Type 2 Diabetes Mellitus (MODY) 01/2017
1	familial dilated cardiomyopathy 01/2017
1	Lipodystrophy 01/2017
1	Mental Disorders (Mental Disorder) 01/2017
1	Muscular Dystrophies (Muscular Dystrophy) 01/2017
1	Progeria (Hutchinson Gilford Syndrome) 01/2017
1	Psychotic Disorders (Schizoaffective Disorder) 07/2016
1	Hypoglycemia (Reactive Hypoglycemia) 01/2016
1	Intellectual Disability (Idiocy) 01/2016
1	Acidosis 01/2016
1	Liver Diseases (Liver Disease) 01/2015
1	type 6 Osteogenesis imperfecta 12/2014
1	Methylmalonic acidemia 11/2014
1	Chronic Kidney Failure (Chronic Renal Failure) 11/2014
1	Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 01/2014
1	Autistic Disorder (Autism) 03/2011
1	Metachondromatosis 06/2010
1	Hearing Loss (Hearing Impairment) 03/2010
1	24 Autosomal Recessive Deafness 03/2010

Drug/Important Bio-Agent (IBA)

5	Arginine (L-Arginine)FDA Link 01/2023 - 02/2002
5	OrnithineIBA 01/2023 - 02/2002
4	EnzymesIBA 12/2017 - 06/2002
4	Proteins (Proteins, Gene)FDA Link 01/2017 - 06/2002
3	MicroRNAs (MicroRNA)IBA 02/2013 - 08/2007
3	Proline (L-Proline)FDA Link 11/2008 - 01/2005
2	AmmoniaIBA 05/2023 - 06/2022
2	Ornithine-Oxo-Acid Transaminase (Ornithine Aminotransferase)IBA 01/2023 - 06/2022
2	CitrullineIBA 06/2022 - 01/2005
2	NeuregulinsIBA 07/2016 - 01/2009
2	Membrane Proteins (Integral Membrane Proteins)IBA 06/2005 - 06/2002
1	Delayed-Action PreparationsIBA 12/2023
1	Guanfacine (Tenex)FDA LinkGeneric 12/2023
1	Ion Channels (Ion Channel)IBA 12/2023
1	Ammonium CompoundsIBA 05/2023
1	Metalloproteases (Metalloproteinases)IBA 01/2023
1	Pyridoxine (Pyridoxin)FDA LinkGeneric 01/2023
1	Biomarkers (Surrogate Marker)IBA 01/2023
1	Lysine (L-Lysine)FDA Link 01/2023
1	ZincIBA 01/2023
1	RNA (Ribonucleic Acid)IBA 12/2022
1	homocitrullineIBA 06/2022
1	ornithine transporter (ornithine translocase)IBA 06/2022
1	Orotic AcidIBA 06/2022
1	Urea (Carbamide)FDA LinkGeneric 01/2022
1	alpha-Fetoproteins (alpha-Fetoprotein)IBA 01/2019
1	Acetylcysteine (Siran)FDA LinkGeneric 01/2019
1	TransaldolaseIBA 01/2019
1	Acetaminophen (Paracetamol)FDA LinkGeneric 01/2019
1	AntioxidantsIBA 01/2019
1	Phospholipids (Phosphatides)FDA LinkGeneric 01/2018
1	Phosphatidylinositols (Phosphatidylinositol)IBA 01/2018
1	Histones (Histone)IBA 12/2017
1	prelamin AIBA 01/2017
1	Intermediate Filament ProteinsIBA 01/2017
1	LaminsIBA 01/2017
1	3-Hydroxy-3-Methylglutaryl-CoA Lyase DeficiencyIBA 01/2016
1	AcidsIBA 01/2015
1	Lamin B ReceptorIBA 01/2015
1	Glycoproteins (Glycoprotein)IBA 12/2014
1	SerpinsIBA 12/2014
1	TOR Serine-Threonine KinasesIBA 11/2014
1	Protein Isoforms (Isoforms)IBA 11/2014
1	Methylmalonic AcidIBA 11/2014
1	Phosphatidylcholines (Phosphatidylcholine)IBA 01/2014
1	Glutamate Receptors (Glutamate Receptor)IBA 03/2011
1	Nonsense Codon (Nonsense Mutation)IBA 06/2010

Therapy/Procedure

2	Liver Transplantation 01/2015 - 11/2014
1	Off-Label Use 12/2023
1	Protein-Restricted Diet (Diet, Protein Restricted) 06/2022
1	Precision Medicine 01/2019
1	Transplantation 01/2015
1	Renal Dialysis (Hemodialysis) 11/2014
1	Kidney Transplantation 11/2014